Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF512_chr2_27578042_27628217	27613162	A A	ACTACAGA others(342): Show ACTACAGATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	332	0.0030	349	c.113 others(368): Show c.1132-1989_1132-1988insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCTACAGATAATTTTTTT	ZNF512	ENSG00000243943.10	transcript	ENST00000355467.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF517_chr8_144793913_144815084	144811821	A A	AGCTCAGC others(342): Show AGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGT GGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGA AGCAAAGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGCCA GGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACA CGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCT GAGACAGAGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACT GCAGCGTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02647.hp2 others(3): Show HG02109.hp2 HG02622.hp2 HG02647.hp2 HG02896.hp2 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0021 a0001c0002t0003 a0001c0002t0021	a0001c0002t0003g0004 a0001c0002t0003g0026 a0001c0002t0003g0076 others(2): Show a0001c0002t0003g0004 a0001c0002t0003g0026 a0001c0002t0003g0076 a0001c0002t0003g0079 a0001c0002t0021g0004	6	408	0.0147	349	c.34 others(360): Show c.3426_*3427insGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAA AGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGC AGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACCGAC AGTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGAC AGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGA ATGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACCGACAGTAAAGCTC AGCCAGGTGCAGACTGCAGCGTGGAAGCAAAGGCTGAGACAGGGTGGGAG AGACACGGACAGTAC	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1738		chr8	TogoVar
ZNF573_chr19_37733302_37784586	37751663	C C	CATATATA others(342): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCA TATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAGT ACATAGTACCGTATATATACTGTGTATAGTACATAGTACCGTATATACTG TATATAGTACATAGTACCGTATATATACTGTATATAGTACATAGTACCGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0014 a0001c0001t0003g0016	2	350	0.0057	349	c.296 others(368): Show c.296-11470_296-11469insACGGTACTATGTACTATATACAGTAT ATATACGGTACTATGTACTATATACAGTATATACGGTACTATGTACTATA CACAGTATATATACGGTACTATGTACTATACACAGTATATATGCTGTCTA TACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACA GTATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTAT ACTGTATATATACACAGTATATATGCTGTCTATACTGTATATATACACAG TATATATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATA CTGTATATATACACAGTATATAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF714_chr19_21077203_21130094	21103184	T T	TTTGAAGG others(342): Show TTTGAAGGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGA CTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0105 a0003c0004t0007g0105	1	290	0.0035	349	c.142 others(366): Show c.142+4289_142+4290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTGAAGGTAATTTTT	ZNF714	ENSG00000160352.16	transcript	ENST00000456283.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(342): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18947.hp2 NA18964.hp2 others(2): Show NA18612.hp1 NA18947.hp2 NA18964.hp2 NA18970.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0062 a0001c0002t0001 a0001c0002t0010 a0001c0001t0062 a0001c0002t0001 a0001c0002t0010	a0001c0001t0062g0190 a0001c0002t0001g0021 a0001c0002t0010g0234 a0001c0001t0062g0190 a0001c0002t0001g0021 a0001c0002t0010g0234	5	434	0.0115	349	c.328 others(364): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
AARS2_chr6_44293731_44318347	44314472	A A	ACAGCACC others(343): Show ACAGCACCTATAACTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGCGATGTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTGAGCCTCCCGAATAGCTGGGACTACAGGCGCCT GCCACCGCGCCCAGCTAATTTTTTTGTATTTTTAGCAGAGACGGGGTTTC ACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCGCCCGGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	396	0.0025	350	c.-11 others(361): Show c.-1150_-1149insGGCCGGGCGAGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAAT TAGCTGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTATTCGGGAGGCTC AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAC ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GGAGTTATAGGTGCTG	AARS2	ENSG00000124608.5	transcript	ENST00000244571.5	protein_coding		1126		chr6	TogoVar
ABCB8_chr7_151023450_151052782	151043436	T T	TGGGGGTC others(343): Show TGGGGGTCAGAGACAGGACTAGGGTGCACAGTGCGGGGTGGAGGGTCAGA GACAGGACTAGGGTGCACAGTGTGGGGTGGAGGGTCAGAGACAGGACTAG GGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGTG TGGGGTGGAGGGTCAGAGGCAGGACTAGGGTGCACAGTGCAAGGTGGAGG GTCAGAGGCAGGACGAGCGTACACAGTGCGGGGTAGAGGGTCAGAGGCAG GACGAGGGTGCACAGTGCGGGGTGGGGGGTCAGAGGCAGGAGGAGGGTGC ACAGTGCGGGGTGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGCGGGGT G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0097 a0001c0002t0003g0097	1	400	0.0025	350	c.176 others(367): Show c.1766-196_1766-195insAGTGCGGGGTGGGGGGTCAGAGACAGGA CTAGGGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCAC AGTGTGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGTGCGGGGTG GAGGGTCAGAGACAGGACTAGGGTGCACAGTGTGGGGTGGAGGGTCAGAG GCAGGACTAGGGTGCACAGTGCAAGGTGGAGGGTCAGAGGCAGGACGAGC GTACACAGTGCGGGGTAGAGGGTCAGAGGCAGGACGAGGGTGCACAGTGC GGGGTGGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGCGGGGTGGGGGT CAGAGGCAGGAGGAGGGTGCAC	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB8_chr7_151023450_151052782	151043526	A A	ACAGGACT others(343): Show ACAGGACTAGGGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGGACTAGG GTGCACAGTGTGGGGTGGAGGGTCAGAGGCAGGACTAGGGTGCACAGTGC AAGGTGGAGGGTCAGAGGCAGGACGAGCGTACACAGTGCGGGGTAGAGGG TCAGAGGCAGGACGAGGGTGCACAGTGCGGGGTGGGGGGGTCAGAGGCAG GAGGAGGGTGCACAGTGCGGGGTGGGGGTCAGAGGCAGGAGGAGGGTGCA CAGTGCGGGGTGGGGGTCAGAGACAGGACTAGGGTGCACAGTGCGGGGTG GAGGGTCAGAGACAGGACTAGGGTGCACAGTGTGGGGTGGGGGGTCAGAG G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0094 a0001c0002t0003g0094	1	400	0.0025	350	c.176 others(367): Show c.1766-257_1766-256insGTCAGAGGCAGGAGGAGGGTGCACAGTG CGGGGTGGGGGTCAGAGGCAGGAGGAGGGTGCACAGTGCGGGGTGGGGGT CAGAGACAGGACTAGGGTGCACAGTGCGGGGTGGAGGGTCAGAGACAGGA CTAGGGTGCACAGTGTGGGGTGGGGGGTCAGAGGCAGGACTAGGGTGCAC AGTGCGGGGTGGAGGGTCAGAGACAGGACTAGGGTGCACAGTGTGGGGTG GAGGGTCAGAGGCAGGACTAGGGTGCACAGTGCAAGGTGGAGGGTCAGAG GCAGGACGAGCGTACACAGTGCGGGGTAGAGGGTCAGAGGCAGGACGAGG GTGCACAGTGCGGGGTGGGGGG	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCG2_chr4_88085269_88163639	88119755	T T	TAAAAGCA others(343): Show TAAAAGCATTCAGTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0290 a0003c0003t0001g0290	1	350	0.0029	350	c.690 others(367): Show c.690-1496_690-1495insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGGAATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGCCACCGCGC CCGGCCAAAACTGAATGCTTTT	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	6/15			chr4	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(343): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCG TGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGG GACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCC GCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAG AAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGAC C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00621.hp2 others(27): Show HG00408.hp1 HG00438.hp2 HG00621.hp2 HG01074.hp2 HG01081.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG03017.hp2 HG03195.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA19030.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0039 a0001c0001t0044 a0001c0001t0061 a0001c0001t0063 a0001c0001t0072 a0001c0003t0012 a0001c0003t0023 a0001c0003t0025 a0001c0003t0051 a0002c0005t0001	a0001c0001t0001g0201 a0001c0001t0002g0104 a0001c0001t0002g0126 others(27): Show a0001c0001t0001g0201 a0001c0001t0002g0104 a0001c0001t0002g0126 a0001c0001t0002g0145 a0001c0001t0003g0143 a0001c0001t0003g0217 a0001c0001t0004g0250 a0001c0001t0004g0293 a0001c0001t0004g0329 a0001c0001t0005g0283 a0001c0001t0008g0007 a0001c0001t0008g0020 a0001c0001t0009g0004 a0001c0001t0010g0261 a0001c0001t0010g0298 a0001c0001t0017g0113 a0001c0001t0018g0111 a0001c0001t0027g0038 a0001c0001t0033g0327 a0001c0001t0039g0010 a0001c0001t0044g0021 a0001c0001t0061g0149 a0001c0001t0063g0189 a0001c0001t0072g0175 a0001c0003t0012g0105 a0001c0003t0023g0005 a0001c0003t0025g0006 a0001c0003t0025g0009 a0001c0003t0051g0106 a0002c0005t0001g0197	30	337	0.0890	350	c.894 others(365): Show c.894+258_894+259insGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACAC ACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCC CTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCT CACACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCA GGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCT TCTCTCACACACGGGCGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118421	T T	TTCCTCCC others(343): Show TTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAG CGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGT C	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0304 a0001c0001t0005g0304	1	337	0.0030	350	c.246 others(367): Show c.246+6761_246+6762insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(343): Show TTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAG CGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGT C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01943.hp2 HG02074.hp2 others(20): Show HG01123.hp1 HG01943.hp2 HG02074.hp2 HG02165.hp2 HG02886.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 NA18906.hp1 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18970.hp2 NA18979.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19090.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0003c0015 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0064 a0001c0001t0073 a0001c0001t0082 a0001c0001t0086 a0001c0002t0007 a0001c0002t0042 a0001c0002t0060 a0001c0003t0016 a0001c0007t0003 a0001c0010t0001 a0003c0015t0062 a0004c0011t0009	a0001c0001t0001g0187 a0001c0001t0002g0126 a0001c0001t0002g0127 others(20): Show a0001c0001t0001g0187 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0003g0129 a0001c0001t0004g0263 a0001c0001t0005g0283 a0001c0001t0007g0317 a0001c0001t0010g0260 a0001c0001t0011g0125 a0001c0001t0015g0265 a0001c0001t0019g0211 a0001c0001t0064g0239 a0001c0001t0073g0245 a0001c0001t0082g0302 a0001c0001t0086g0294 a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0003t0016g0218 a0001c0007t0003g0140 a0001c0010t0001g0139 a0003c0015t0062g0212 a0004c0011t0009g0029	23	337	0.0683	350	c.246 others(367): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAATGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118768	T T	TTCCTCCC others(343): Show TTCCTCCCAGCGTTATCCCTGAACCCGAGTTCCTCCCAGCGTTATCCCTG AGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCAGCGT TATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCT CCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAG CGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGT C	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	337	0.0030	350	c.246 others(367): Show c.246+6414_246+6415insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(343): Show GTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAG GGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACC TACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTAGGGATCC AGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCT AGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCG GGAGGGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCA CACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGGAGGGCTGGGG A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	337	0.0030	350	c.61+ others(367): Show c.61+26221_61+26222insTCCCCAGCCCTCCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCT CCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCTCCCCGCAGGTGTG CCTGGACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACSM3_chr16_20759014_20802581	20766305	T T	TAAGAAAT others(343): Show TAAGAAATGACAGTGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	356	0.0028	350	c.-52 others(367): Show c.-52+2197_-52+2198insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGGTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAAATGACAGTGCAG	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS16_chr5_5135330_5325304	5305157	A A	ATCCACAC others(343): Show ATCCACACCACACACACACACATCCCACACCAGACACACACATCCCACAC ACACATCCCACAACACACACACACATCCCACATCACACACACACATCCCA CACACACATCCCACACCACACACACACATCCCACACACACACACCCACCA CACACACACATCCCACACCACACACACAATCCCACACCACACACACACAC AATCCCACACCACACACACACACATCCCACACCACACACACATCCCACGC CACACACACACACATCCCACACCACACACACATCCCACACCACACACATC CACACCACACACACACATCCCACACCACACATACACACACACATCCCATA C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG02027.hp2 others(7): Show HG00741.hp2 HG01346.hp1 HG02027.hp2 HG02273.hp1 HG02965.hp2 HG03704.hp2 NA18946.hp1 NA18995.hp1 NA19060.hp1 NA19077.hp1	a0002 a0004 a0005 others(4): Show a0002 a0004 a0005 a0007 a0008 a0018 a0030	a0002c0002 a0002c0005 a0002c0013 others(6): Show a0002c0002 a0002c0005 a0002c0013 a0004c0024 a0005c0003 a0007c0012 a0008c0019 a0018c0054 a0030c0074	a0002c0002t0002 a0002c0002t0005 a0002c0005t0041 others(7): Show a0002c0002t0002 a0002c0002t0005 a0002c0005t0041 a0002c0013t0002 a0004c0024t0009 a0005c0003t0021 a0007c0012t0021 a0008c0019t0003 a0018c0054t0005 a0030c0074t0011	a0002c0002t0002g0292 a0002c0002t0005g0306 a0002c0005t0041g0310 others(7): Show a0002c0002t0002g0292 a0002c0002t0005g0306 a0002c0005t0041g0310 a0002c0013t0002g0195 a0004c0024t0009g0101 a0005c0003t0021g0082 a0007c0012t0021g0248 a0008c0019t0003g0287 a0018c0054t0005g0074 a0030c0074t0011g0299	10	332	0.0301	350	c.318 others(369): Show c.3187-1347_3187-1346insTCCACACCACACACACACACATCCCA CACCAGACACACACATCCCACACACACATCCCACAACACACACACACATC CCACATCACACACACACATCCCACACACACATCCCACACCACACACACAC ATCCCACACACACACACCCACCACACACACACATCCCACACCACACACAC AATCCCACACCACACACACACACAATCCCACACCACACACACACACATCC CACACCACACACACATCCCACGCCACACACACACACATCCCACACCACAC ACACATCCCACACCACACACATCCACACCACACACACACATCCCACACCA CACATACACACACACATCCCATAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305157	A A	ATCCACAC others(343): Show ATCCACACCACACACACACACATCCCACACCAGACACACACATCCCACAC ACACATCCCACAACACACATACACATCCCACATCACACACACACATCCCA CACACACATCCCACACCACACACACACATCCCACACACACACACCCACCA CACACACACATCCCACACCACACACACAATCCCACACCACACACACACAC AATCCCACACCACACACACACACATCCCACACCACACACACATCCCACGC CACACACACACACATCCCACACCACACACACATCCCACACCACACACATC CACACCACACACACACATCCCACACCACACATACACACACACATCCCATA C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0268 a0008c0019t0001g0268	1	332	0.0030	350	c.318 others(369): Show c.3187-1347_3187-1346insTCCACACCACACACACACACATCCCA CACCAGACACACACATCCCACACACACATCCCACAACACACATACACATC CCACATCACACACACACATCCCACACACACATCCCACACCACACACACAC ATCCCACACACACACACCCACCACACACACACATCCCACACCACACACAC AATCCCACACCACACACACACACAATCCCACACCACACACACACACATCC CACACCACACACACATCCCACGCCACACACACACACATCCCACACCACAC ACACATCCCACACCACACACATCCACACCACACACACACATCCCACACCA CACATACACACACACATCCCATAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22			chr5	TogoVar
ADGRE3_chr19_14614117_14679844	14620403	T T	TATATATG others(343): Show TATATATGTATATTCATGTATATATGAATATATATGTATATTCATGTATA TATGAATATATATGTATATTCATGTATATATGAATATATATGTATATTCA TGTATATATGAATATATATGTATATTCATGTATATATGAATATATATGTA TATTCATGTATATATGAATATATGTATATTCATGTATATATGAATATATA TGTATATTCATGTATATATGAATATATGTATATTCATGTATATATGAATA TATGTATATTCATGTATATATGAATATATGTATATTCATGTATATATGAA TATATGTATATTCATGTATATATGAATATATGTATATTCATGTATATATG A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0360 a0004c0004t0001g0360	1	372	0.0027	350	c.192 others(367): Show c.1921-933_1921-932insTCATATATACATGAATATACATATATTC ATATATACATGAATATACATATATTCATATATACATGAATATACATATAT TCATATATACATGAATATACATATATTCATATATACATGAATATACATAT ATTCATATATACATGAATATACATATATATTCATATATACATGAATATAC ATATATTCATATATACATGAATATACATATATATTCATATATACATGAAT ATACATATATATTCATATATACATGAATATACATATATATTCATATATAC ATGAATATACATATATATTCATATATACATGAATATACATATATATTCAT ATATACATGAATATACATATAT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
AEN_chr15_88616340_88637281	88617088	T T	TTCATTTA others(343): Show TTCATTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	440	0.0023	350	c.-43 others(361): Show c.-4359_-4358insTCATTTATTTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	AEN	ENSG00000181026.15	transcript	ENST00000332810.4	protein_coding		4251		chr15	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(343): Show TACGTATACGTATACACATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATATATACACGTATA TATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0030 a0001c0001t0084g0030	1	169	0.0059	350	c.48- others(367): Show c.48-70722_48-70721insGTATACGTATACACATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATATATACACGTATATATACGTATACGTGTACACACACACACGTAT ATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(343): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGG GGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	301	0.0033	350	c.125 others(371): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCC CCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(343): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAG GGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	301	0.0033	350	c.125 others(371): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCCCCTCCCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(343): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGGG AGGGGGGGAGGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAG GGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	301	0.0033	350	c.125 others(371): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCTCCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALDH18A1_chr10_95600941_95661711	95627213	G G	GAGAAAAT others(343): Show GAGAAAATCAATGCTTATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	372	0.0027	350	c.107 others(367): Show c.1078+228_1078+229insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATATATAAGCATTGATTTTCT	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	9/17			chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAAAAAAAACAAAAAAAAAAAAACAAAAAAAAAAAAAATAA A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	306	0.0033	350	c.442 others(365): Show c.442+838_442+839insTTTATTTTTTTTTTTTTTGTTTTTTTTTTT TTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAAAAAAACAAAAAAAAAAAAAACAAAAAAAAAAAAAATAA A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02040.hp1 others(4): Show HG01515.hp1 HG01517.hp2 HG02040.hp1 HG03225.hp1 HG03486.hp1 NA18906.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0066 a0001c0002t0001g0250 a0001c0002t0001g0251 others(4): Show a0001c0002t0001g0066 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0267 a0001c0002t0001g0275 a0001c0002t0001g0281 a0001c0002t0002g0151	7	306	0.0229	350	c.442 others(365): Show c.442+838_442+839insTTTATTTTTTTTTTTTTTGTTTTTTTTTTT TTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAAAAAAACAAAAAAAAAAAAAACAAACAAAAAAAAAATAA A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	306	0.0033	350	c.442 others(365): Show c.442+838_442+839insTTTATTTTTTTTTTGTTTGTTTTTTTTTTT TTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAAAAAAACAAAAAAAAAACAAACAAACAAAAAAAAAATAA A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	306	0.0033	350	c.442 others(365): Show c.442+838_442+839insTTTATTTTTTTTTTGTTTGTTTGTTTTTTT TTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAAAAAAACAAAAACAAAAAAAACAAACAAACAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	306	0.0033	350	c.442 others(365): Show c.442+838_442+839insTTTTTTTTTTGTTTGTTTGTTTTTTTTGTT TTTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72928053	C C	CTAAAGTA others(343): Show CTAAAGTAGCCACATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACT CCGTCTCAAAAACAAAACAAAAAAAAAAAAAACAAACAAAAAAAAAATAA A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	306	0.0033	350	c.442 others(365): Show c.442+838_442+839insTTTATTTTTTTTTTGTTTGTTTTTTTTTTT TTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTTGCAAGCTCCACTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAATGTGGCTACTTTA	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	4/12			chr9	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(343): Show ATGGCAGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03540.hp1 HG01358.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0035 a0002c0002t0001g0315 a0001c0001t0001g0035 a0002c0002t0001g0315	2	334	0.0060	350	c.149 others(365): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(343): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATATAATTGTATATATAATATATATTATATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	350	c.-12 others(361): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATATAATTGTATATATAATATATATTATATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(343): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGTGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAG TGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	246	0.0041	350	c.-15 others(361): Show c.-1589_-1588insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCACTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCACTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCT AGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP42_chr11_100682288_100998941	100844350	T T	TGCAAGAA others(343): Show TGCAAGAATGGCCATAATCAAAAATTCAAAAAATAGTAGATGTTGATTTG GATGCAGTGAACAGGGAACACTTCTACACTGCTGGTGGGGATGTAAACTA GTACAACCACTGTGGAAAACAGAGTGGATATTCCTTAAAGAACTAAAATA GAACTATCATTTGATCCAGCAATCCCACTACTGGGTATCTACTCAGAGGA AATGAAGTCATTATATGAAAAAGATACTTGCACACACATGTTCATAGCAG CACAATTAGCAATTGCAAAAACGTGGATACAACCCAAATTCCTATCAATC AACAAGTGGATAAAGAAACTGTGATATATATATATATATACACACACACA C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02922.hp1 others(5): Show HG01243.hp1 HG02559.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03516.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0002t0018 a0002c0011t0017 a0002c0002t0002 a0002c0002t0018 a0002c0011t0017	a0002c0002t0002g0034 a0002c0002t0002g0222 a0002c0002t0002g0245 others(5): Show a0002c0002t0002g0034 a0002c0002t0002g0222 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0249 a0002c0002t0018g0193 a0002c0002t0018g0194 a0002c0011t0017g0205	8	286	0.0280	350	c.313 others(369): Show c.313-15204_313-15203insGCAAGAATGGCCATAATCAAAAATTC AAAAAATAGTAGATGTTGATTTGGATGCAGTGAACAGGGAACACTTCTAC ACTGCTGGTGGGGATGTAAACTAGTACAACCACTGTGGAAAACAGAGTGG ATATTCCTTAAAGAACTAAAATAGAACTATCATTTGATCCAGCAATCCCA CTACTGGGTATCTACTCAGAGGAAATGAAGTCATTATATGAAAAAGATAC TTGCACACACATGTTCATAGCAGCACAATTAGCAATTGCAAAAACGTGGA TACAACCCAAATTCCTATCAATCAACAAGTGGATAAAGAAACTGTGATAT ATATATATATATACACACACACAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	3/23			chr11	TogoVar
ARHGAP42_chr11_100682288_100998941	100844350	T T	TGCAAGAA others(343): Show TGCAAGAATGGCCATAATCAAAAATTCAAAAAATAGTAGATGTTGATTTG GATGCAGTGAACAGGGAACACTTCTACACTGCTGGTGGGGATGTAAACTA GTACAACCACTGTGGAAAACAGAGTGGATATTCCTTAAAGAACTAAAATA GAACTATCATTTGATCCAGCAATCCCACTACTGGGTATCTACTCAGAGGA AATGAAGTCATTATATGAAAAATATACTTGCACACACATGTTCATAGCAG CACAATTAGCAATTGCAAAAACGTGGATACAACCCAAATTCCTATCAATC AACAAGTGGATAAAGAAACTGTGATATATATATATATATACACACACACA C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp1 HG03453.hp2 HG02486.hp2 HG03098.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0010 a0002c0002t0002 a0001c0008t0010 a0002c0002t0002	a0001c0008t0010g0253 a0002c0002t0002g0248 a0002c0002t0002g0250 a0001c0008t0010g0253 a0002c0002t0002g0248 a0002c0002t0002g0250	3	286	0.0105	350	c.313 others(369): Show c.313-15204_313-15203insGCAAGAATGGCCATAATCAAAAATTC AAAAAATAGTAGATGTTGATTTGGATGCAGTGAACAGGGAACACTTCTAC ACTGCTGGTGGGGATGTAAACTAGTACAACCACTGTGGAAAACAGAGTGG ATATTCCTTAAAGAACTAAAATAGAACTATCATTTGATCCAGCAATCCCA CTACTGGGTATCTACTCAGAGGAAATGAAGTCATTATATGAAAAATATAC TTGCACACACATGTTCATAGCAGCACAATTAGCAATTGCAAAAACGTGGA TACAACCCAAATTCCTATCAATCAACAAGTGGATAAAGAAACTGTGATAT ATATATATATATACACACACACAC	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	3/23			chr11	TogoVar
ASAH1_chr8_18050992_18089107	18085612	T T	TAAATAAG others(343): Show TAAATAAGAGGGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	420	0.0024	350	c.-15 others(361): Show c.-1555_-1554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CCTGTCCCTCTTATTT	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding		1506		chr8	TogoVar
ASCC3_chr6_100503194_100886329	100757461	T T	TAAGACTT others(343): Show TAAGACTTAAATCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0007 a0008c0010t0007	a0008c0010t0007g0004 a0008c0010t0007g0004	1	314	0.0032	350	c.173 others(369): Show c.1737+9103_1737+9104insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCTAGATTTAAGTCTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41			chr6	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(343): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATATGAATATATA TCATATATGATATATATGATATATATATCATATATTATATATGATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATGAATATATATATCATATAT G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0139 a0002c0001t0002g0139	1	356	0.0028	350	c.924 others(367): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATTCATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(343): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATGATATATATATCATATATTATATATGATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATGAATATATATATCATATAT G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG02080.hp2 others(3): Show HG00558.hp1 HG00609.hp2 HG02080.hp2 HG02300.hp2 NA18946.hp1 NA19083.hp1	a0002 a0007 a0002 a0007	a0002c0001 a0007c0009 a0002c0001 a0007c0009	a0002c0001t0002 a0002c0001t0004 a0002c0001t0048 others(1): Show a0002c0001t0002 a0002c0001t0004 a0002c0001t0048 a0007c0009t0002	a0002c0001t0002g0132 a0002c0001t0002g0150 a0002c0001t0002g0185 others(3): Show a0002c0001t0002g0132 a0002c0001t0002g0150 a0002c0001t0002g0185 a0002c0001t0004g0118 a0002c0001t0048g0114 a0007c0009t0002g0131	6	356	0.0169	350	c.924 others(367): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATGAATATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(343): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATGAATATATATATCATATAT G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0125 a0007c0009t0002g0125	1	356	0.0028	350	c.924 others(367): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATCATATATAATATATGATATATATATCATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATATTCATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(343): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGATATATATATCATATATTATATATGATATATA TATCATATATGATATATATGAATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATGAATATATATATCATATAT G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0110 a0002c0001t0002g0110	1	356	0.0028	350	c.924 others(367): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATATTCATATATATCATATATG ATATATATATTCATATATATCATATATGATATATATATTCATATATATCA TATATGATATATATATTCATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340157	A A	ATCATATA others(343): Show ATCATATATGATATATATGAATATATATATCATATATGATATATATGAAT ATATATATCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATATTCATATATATCATATATG ATATATATGATATATATATCATATATTATATATGATATATATATCATATA TGATATATATGAATATATATATCATATATGATATATATGAATATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATGAATATATATATCATATATGATATATAT C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	2	356	0.0056	350	c.924 others(367): Show c.924+1364_924+1365insGATATATATCATATATGATATATATATT CATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATATTCATATATATCATATATGATATATATATCATATATAATA TATGATATATATATCATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATATTCATATATATCATATATGATATATA TATTCATATATATCATATATGA	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCTAG others(343): Show GGGGCTAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAA GGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTAC TGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGG CCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACC TGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACC ACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCA T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0197 a0001c0003t0034g0197	1	266	0.0038	350	c.460 others(367): Show c.460-5956_460-5955insATGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCAGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACC AGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTA GCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGT CAGTACCAGGTCCTTCTAGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCOR_chrX_40046251_40102958	40080061	C C	CAAGAAAA others(343): Show CAAGAAAAGGATGAGGGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCATTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	257	0.0039	350	c.-40 others(367): Show c.-40-2093_-40-2092insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGAC TGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCTGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCTTCCCTCATCCTTTTCTT	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding	1/14			chrX	TogoVar
BICD1_chr12_32101847_32388633	32205715	T T	TTATATGT others(343): Show TTATATGTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0013 a0001c0002t0026g0013	1	290	0.0035	350	c.214 others(369): Show c.214-10518_214-10517insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTATATGTCAATTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32252117	A A	ATATATTT others(343): Show ATATATTTATAATAAATATATATTATATATTTATAATAAATATATATTAT ATATTTATTATAAATATATAATATATATTTATTATAAATATAATATATAT TTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATAT ATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTAT AATAAATATTATATATTATATATTATATTTATAATAAATATTATATATTA TATATTATATTTATAATAAATATTATATATTATATATTATATTTATAATA AATATTATATATTATATATTATATTTATAATAAATATTATATATTATATA T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(3): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0005t0009	a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 others(3): Show a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0009g0183 a0001c0001t0010g0161 a0001c0005t0009g0270	6	290	0.0207	350	c.426 others(369): Show c.426+35676_426+35677insATATTATATATTTATAATAAATATAT ATTATATATTTATTATAAATATATAATATATATTTATTATAAATATAATA TATATTTATAATAAATATTATATATTATATATTATATTTATAATAAATAT TATATATTATATATTATATTTATAATAAATATTATATATTATATATTATA TTTATAATAAATATTATATATTATATATTATATTTATAATAAATATTATA TATTATATATTATATTTATAATAAATATTATATATTATATATTATATTTA TAATAAATATTATATATTATATATTATATTTATAATAAATATTATATATT ATATATTATATTTATAATAAATAT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMPER_chr7_33900539_34161427	33985808	A A	ATGTGTAT others(343): Show ATGTGTATGAAGGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0091 a0002c0006t0001g0091	1	232	0.0043	350	c.576 others(369): Show c.576+11041_576+11042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCCTGTGTATGAAGGATCTT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAAP1_chr9_26835685_26897802	26851098	T T	TAGAAGTA others(343): Show TAGAAGTAGGTGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	372	0.0027	350	c.740 others(367): Show c.740-8452_740-8451insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTGTCACCTACTTCT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(343): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02717.hp1 HG04228.hp1 others(3): Show HG00140.hp2 HG02717.hp1 HG04228.hp1 NA18948.hp1 NA18948.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0004g0057 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0004g0057 a0001c0001t0006g0070 a0001c0001t0009g0093 a0001c0003t0001g0084	6	166	0.0361	350	c.198 others(369): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1B_chr9_137872782_138129619	137949143	C C	CTGTGTCT others(343): Show CTGTGTCTGATGTGTGTGGTGTGTGCACGTCTGGCATATGTGGTGTGTGT GTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTGGTGCATGTGTGTATCTG GTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTGTACATATGGTGTGCATG TAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTGCGCTTGTGTGTCCAGTG TGTGTGTATGGTGTATGTGTGTCTGGTATGTGTGGTGTGAGTGTGTGTGG TGTATGTATGCATGTGTGTGGTGTGTGTGGTGTGTGGTGCGTGTGTCTGG TGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGTATGTGTGTCTGTGTGTG G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0025 a0001c0002t0033g0025	1	248	0.0040	350	c.967 others(367): Show c.967-3127_967-3126insTCTGATGTGTGTGGTGTGTGCACGTCTG GCATATGTGGTGTGTGTGTGGTGTGTGGGTGTGTGGGTGTGTGTGGTGTG GTGCATGTGTGTATCTGGTGTGTGCGCTTGTGTGTCCTTTGTGTGTGGTG TACATATGGTGTGCATGTAGTGTGTGTGTGTTTGGTGTTTGTGGTGTGTG CGCTTGTGTGTCCAGTGTGTGTGTATGGTGTATGTGTGTCTGGTATGTGT GGTGTGAGTGTGTGTGGTGTATGTATGCATGTGTGTGGTGTGTGTGGTGT GTGGTGCGTGTGTCTGGTGTGTGCACTTGTGTGTCCTGTGTGTGTGGTGT ATGTGTGTCTGTGTGTGGTGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	6/46		INFO_REALIGN_3_PRIME	chr9	TogoVar

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